Nomenclature and numbering of exons, introns and protein domains are according to standards.
Name of mutation, according to the recommendations of the HGVS
Other names, commonly used by the scientific community to identify the mutation. Aliases are separated by a semi-colon.
|ACCPN:||Agenesis of the corpus callosum with peripheral neuropathy|
|ALS4:||Juvenile amyotrophic lateral sclerosis 4|
|CCFDN:||Congenital cataracts, facial dysmorphism, and neuropathy|
|CIDP:||Chronic inflammatory demyelinating neuropathy|
|CIPA:||Congenital insensivity to pain & anhidrosis|
|CMT1:||Charcot-Marie-Tooth disease type 1|
|CMT1/2:||mixed, intermediate CMT|
|CMT1X:||Charcot-Marie-Tooth disease type 1X|
|CMT2:||Charcot-Marie-Tooth disease type 2|
|CMT4:||Charcot-Marie-Tooth disease type 4 (recessive)|
|dHMN:||distal hereditary motor neuropathy|
|GAN:||Giant axonal neuropathy|
|HMSN-L:||Hereditary motor and sensory neuropathy - Lom|
|HNA:||Hereditary neuralgic amyotrophy|
|HNPP:||Hereditary neuropathy with liability to pressure palsies|
|HSAN IV, V:||Hereditary sensory and autonomic neuropathy type IV, type V|
|HSN I, III:||Hereditary sensory neuropathy type I, type III|
|SMARD:||spinal muscular atrophy with respiratory distress|
If the mutation is in the coding region of the gene, change of the mutated codon From ... To ...
Textual description of the mutation.
Link to the literature citations of the mutation.
Genomic, cDNA, or protein alterations associated with the mutation that are experimentally observed.
Genomic, cDNA or protein alterations associated with the mutation that are not experimentally observed, but rather deduced from observations on another level.
Date when the mutation was added to the database.
Internal database identifier unique to each mutation.